Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55040024A>G , CM000663.2:g.55040024A>G | GRCh38 |
| NC_000001.10:g.55505697A>G , CM000663.1:g.55505697A>G | GRCh37 |
| NC_000001.9:g.55278285A>G | NCBI36 |
| NG_009061.1:g.5478A>G , LRG_275:g.5478A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.187A>G | ENSP00000501161.2:p.Thr63Ala | |
| ENST00000710286.1:c.544A>G | ENSP00000518176.1:p.Thr182Ala | |
| ENST00000673726.1:c.187A>G | ENSP00000501004.1:p.Thr63Ala | |
| ENST00000302118.5:c.187A>G MANE Select | ENSP00000303208.5:p.Thr63Ala | |
| NM_174936.3:c.187A>G , LRG_275t1:c.187A>G | NP_777596.2:p.Thr63Ala | |
| NM_174936.4:c.187A>G MANE Select | NP_777596.2:p.Thr63Ala |